infantile-onset spinocerebellar ataxia
GPTKB entity
Statements (21)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
gptkb:disease
neurodegenerative disease |
| gptkbp:affects |
gptkb:spinal_cord
gptkb:cerebellum |
| gptkbp:causedBy |
mutation in SLC25A46 gene
|
| gptkbp:firstDescribed |
1994
|
| https://www.w3.org/2000/01/rdf-schema#label |
infantile-onset spinocerebellar ataxia
|
| gptkbp:inheritance |
autosomal recessive
|
| gptkbp:OMIM |
271245
|
| gptkbp:prevalence |
rare
|
| gptkbp:symptom |
hypotonia
intellectual disability seizures ataxia developmental delay dysarthria |
| gptkbp:synonym |
IOSCA
Spinocerebellar ataxia, infantile-onset |
| gptkbp:treatment |
supportive care
|
| gptkbp:bfsParent |
gptkb:TWNK
|
| gptkbp:bfsLayer |
8
|